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Describes sickle cell disease. Covers causes and symptoms. Discusses how it is diagnosed. Covers treatment as the disease progresses, including with surgery or medicines like hydroxyurea. Offers home treatment tips.

Sickle Cell Disease

Topic Overview

What is sickle cell disease?

Sickle cell disease changes normal, round red
blood cells into cells that can be shaped like crescent moons. The name "sickle
cell" comes from the crescent shape of the cells. (A sickle is a tool with
a crescent-shaped blade.)

Normal red blood
cells move easily through your blood vessels, taking oxygen to every part of
your body. But sickled cells can get stuck and block blood vessels, which stops
the oxygen from getting through. That can cause a lot of pain. It can also harm
organs, muscles, and bones.

Having sickle cell disease
means a lifelong battle against the health problems it can cause, such as pain,
infections,
anemia, and
stroke. But many people are able to have a very good
quality of life by learning to manage the disease.

What causes sickle cell disease?

Sickle cell
disease is inherited, which means it is passed from parent to child. To get
sickle cell disease, a child has to inherit two sickle cell
genes—one from each parent.

When a child
inherits the gene from just one parent, that child has
sickle cell trait. Having this trait means that you don't have the disease but you are a
carrier and could pass the gene on to your
children.

What are the symptoms?

Painful events (sickle cell crises) are the most common symptom of sickle cell disease. They
are periods of pain that happen when sickled cells get stuck in blood vessels
and block the blood flow. These events usually cause pain in the hands, feet,
belly, back, or chest. The pain may last for hours or for days.

People with sickle cell disease often have anemia, caused by a shortage
of red blood cells. Anemia makes you feel weak and tired. People with sickle
cell anemia may look pale or washed out. Their skin and the whites of their
eyes may have a yellowish look (jaundice).

How is sickle cell disease diagnosed?

A simple blood test can show whether a
person has sickle cell disease. Most states test for sickle cell disease before
infants go home from the hospital.

How is it treated?

Self-care and medical treatment can help you manage pain and avoid other health problems.

Early treatment includes daily
antibiotics from 2 months to 5 years of age to help
prevent infections. Routine childhood
and adult immunizations are also important.

Managing pain is often a big part of having sickle cell disease. You can
prepare for a painful event ahead of time by creating a pain management plan
with your doctor. The plan should include what you can do at home to relieve
pain for yourself or your child. The plan should also tell you when it is best
to call a doctor or go to a hospital.

Some people need regular
blood transfusions to lower the risk of stroke and
treat anemia and other problems. Some people take medicine to prevent complications. In rare cases, a stem cell transplant might be an option.

Regular checkups are an important
part of life with this disease. People with sickle cell disease need a good
working relationship with a doctor who is an expert in treating it.

How do you manage life with sickle cell disease?

Tips for you

Learn what triggers, or sets off, painful events called sickle cell crises. Triggers often
include cold temperatures, wind, dehydration, and too much exercise. Low oxygen caused
by cigarette smoke, high altitude, and plane flights is another common trigger.

People with sickle cell disease and their families face ongoing
stress. A support network can help ease stress and worry. Ask your doctor if
there is a support group in your area.

Tips for helping your child

Make sure that your child takes antibiotics regularly until age 5
to prevent infections. And make sure he or she receives all the usual
immunizations on schedule.

Your child can take part in normal school activities. Make sure
that teachers understand your child's special needs, like needing frequent
drinks and bathroom trips and avoiding overexertion and cold
temperatures.

Cause

Sickle cell disease is an inherited
blood disorder, passed from parent to child. Children with sickle cell disease
have two defective
hemoglobin S genes, one from each parent. Various forms of
sickle cell disorder occur when a person inherits one
hemoglobin S gene (sickle cell gene) from one parent and one other type of defective
hemoglobin gene from the other parent.

Normally, a person inherits two genes that tell the body to
produce normal
hemoglobin A. One gene comes from each parent. People who inherit one defective hemoglobin S gene and one normal
hemoglobin A gene have
sickle cell trait. These people don't have symptoms of
sickle cell disease, and their bodies don't make sickled blood cells. But they can
pass the defective hemoglobin S gene to their children.

Symptoms

Painful events (sickle cell crises) in the hands or
feet, belly, back, or chest are the most common symptom of
sickle cell disease. This pain may last from hours to
days. Most people with sickle cell disease also get
anemia.

When a child is born with
sickle cell disease, it isn't possible to predict which symptoms will appear,
when they will start, or how bad they will be.

Symptoms related to chronic anemia

Most people who have sickle cell disease
have at least mild symptoms of chronic anemia, which may include:

Severe anemia may raise the chance of a person with sickle
cell disease getting high blood pressure in the lungs (pulmonary hypertension). This can be deadly.

Symptoms caused by sickle cell crisis

Painful sickle cell crisis symptoms are caused by blocked blood vessels in bones, organs, and other
tissues. This can cause extreme pain for hours or days. These
painful events can occur rarely to often. Sometimes
home treatment can help the pain. And sometimes a hospital stay is
needed.

Infants and young children may have episodes of
extreme pain in the hands, the feet, or both (hand-foot syndrome).

What Happens

Normal red blood cells have a 120-day
life span. But people born with
sickle cell disease have
sickle-shaped blood cells that usually live no more
than 20 days. These sickled cells can get stuck in blood vessels, blocking blood flow.

Less blood flow can damage
the body's organs, muscles, and bones, sometimes leading to life-threatening
conditions. Sickle cell disease may cause problems such as:

Sickle cell crisis, which
happens when blood vessels are blocked. This is a common condition of sickle
cell disease.

Splenic sequestration, usually seen in infants and young children during or after a simple respiratory infection. Large numbers
of sickled red blood cells get trapped in the
spleen. It can cause sudden and life-threatening
anemia.

Acute chest syndrome, most common in children but more
severe in adults. Symptoms include coughing and chest pain,
which may occur after an infection or painful event.

Severe infections.

Aplastic crisis, which may occur after infection with
some viruses. During an aplastic crisis, bone marrow stops producing red blood
cells, which causes sudden and severe anemia.

When a child is born with sickle cell disease, it's
impossible to predict which problems will develop, when they will start, or how
bad they will be. During the first 6 months of life, infants have a high level
of
fetal hemoglobin (HbF) in their blood, which protects
them from red blood cell sickling. But dangerous complications of sickle cell
disease may quickly develop between ages 6 months and 5 years, after levels of
fetal hemoglobin decrease.

Older children and adults with sickle cell disease may have few problems. Or they may have a pattern of ongoing complications that shortens their lives. The most
common and serious problems caused by sickle cell disease are anemia, pain, and
organ failure. Stroke affects around 10 out of 100 children who have sickle cell
disease.1

Other complications of sickle
cell disease include:

Growth slowdown. Children who have sickle cell
disease often grow more slowly than normal and go through
puberty later than children who don't have the
disease.

Open sores (ulcers) on the legs and feet,
commonly during adulthood. These ulcers can be very painful and heal slowly.
Some may last for years.

Eye damage. Long-term
vision problems may result from blocked blood flow in
the inner lining of the eye (retina).

What Increases Your Risk

A child's risk of getting sickle cell disorder occurs when he or she inherits one
sickle cell gene and one other type of defective
hemoglobin gene.

People who inherit one defective hemoglobin S gene and
one normal hemoglobin A gene have
sickle cell trait. They don't have symptoms of sickle
cell disease, and their bodies don't make sickled blood cells. But they have a 1-out-of-2 (50%)
chance of passing the defective hemoglobin S gene to each of their
children.

If both parents have sickle cell trait, each of their children
will have a 1-out-of-4 (25%) chance of having sickle cell disease.

If one parent has sickle cell disease (has two genes for making
hemoglobin S) and the other has sickle cell trait (has one hemoglobin S gene
and one normal hemoglobin A gene), each of their children will have a
1-out-of-2 (50%) chance of having sickle cell disease and a 1-out-of-2 (50%)
chance of having sickle cell trait.

If one parent has sickle cell disease (two hemoglobin S genes)
and the other has two normal hemoglobin A genes, each of their children will
have sickle cell trait. None of the children will have sickle cell
disease.

People whose ancestors were from Africa, India, the Middle
East, the Mediterranean (Turkey, Italy, Greece), and some Latin American
countries are more likely to inherit the gene that can cause sickle cell
disease. In the United States, about 2,000 children are born each year with sickle cell disease.2

Make a pain management plan with your doctor that includes where and when
to get treatment in case of a sickle cell emergency.

Painful events (crises) can be
treated at home depending on how severe the pain is
and how long you've had it. For more information, see Home Treatment.

Who to see

If you or your child has sickle cell disease, try to
find a doctor who has special training for this disease. Some medical centers
and hospitals specialize in sickle cell disease treatment and support. If your
local community doesn't offer this option, look for a doctor and a pain
treatment specialist who have experience in treating
sickle cell disorders. Choose a doctor you are
comfortable with and can partner with over the long term.

The
following types of health professionals can diagnose and help treat symptoms of
sickle cell disease. Some of these health professionals may provide specialized
treatment or counseling.

Exams and Tests

Prenatal testing

Doctors can diagnose sickle cell
disease before a child is born (prenatally). Couples who are at risk for
passing on this disease to their children may want to talk with a
genetic counselor about prenatal testing.

Infant screening

Sickle cell disease can be
diagnosed at birth. Most states in the United States screen all newborns for
sickle cell disease along with other common disorders. You can also ask for
screening.

Soon after birth, a sample of blood is taken from the
infant's heel and sent to a lab, where it is screened for the presence of
sickle cell hemoglobin (hemoglobin S).

Adult screening

If one member of a couple has
sickle cell disease or sickle cell trait, the other member should be tested
before becoming pregnant. This test requires a blood sample, which is screened
for the presence of hemoglobin S, hemoglobin C, or
beta-thalassemia.

If one or both members
of a couple carry a hemoglobin S
gene or another abnormal hemoglobin gene, the couple
may want to meet with a genetic counselor before becoming pregnant to learn
more about their chances of having a child with sickle cell disease. Your
doctor can help you find a genetic counselor to discuss a
genetic test.

Pulmonary hypertension is a severe, common problem for people who have sickle cell
disease. It can be detected early with an
echocardiogram, a painless method of measuring blood
flow.

Treatment Overview

Treatment
for severe cases of
sickle cell disease may include medicines. For more information, see Medications.

Treatment for children

When parents learn that their
baby has
sickle cell disease, it's the beginning of a lifelong
education process. Knowing as much as you can about the disease can help you
control symptoms as they arise and know what to do in emergency situations.
Treatment includes:

Routine childhood
immunizations. Immunizations in adulthood are important too.

Daily
antibiotics from 2 months to 5 years of age to prevent life-threatening infections. This practice stops at age 5 because older children don't have as many severe infections.

Starting at age 2 years, your child should get screened
every now and then with a
transcranial ultrasound.
This test measures blood flow in the arteries of the head and neck. If test
results show a high chance for
stroke, your child may get
blood transfusions to lower the risk.1

Painful events can happen suddenly and unpredictably and can
become life-threatening. Bouts of severe pain can last for hours to days and
are difficult to treat. They're exhausting for caregivers as well as for the
person in pain. For more information, see the topic
Chronic Pain.

Severe episodes of prolonged erection
of the penis (priapism) need evaluation by your doctor. Treatment
may include fluids (hydration), pain medicines, treatment by a
urologist, and blood transfusions.

There are also things you can do at home to manage pain. To learn more, see Home Treatment.

What to think about

A series of blood
transfusions is the treatment of choice to prevent strokes and treat other
aspects of sickle cell disease. Stem cell transplant is a rare treatment. For more information, see Other Treatment.

People with sickle cell
disease should avoid contact with anyone suspected of having
fifth disease, which is caused by parvovirus.
Parvovirus can cause the body to temporarily stop making blood cells, a severe
life-threatening problem in someone who has sickle cell disease.
Aplastic anemia can occur as a result of a shortage
of red blood cells. It can come on suddenly and is life-threatening if not
treated.

People with sickle cell disease and their
families face ongoing
stress. For help coping, see Home Treatment.

Prevention

Sickle cell disease is an inherited blood disorder that is not preventable.

Home Treatment

Home treatment for
sickle cell disease includes steps to control pain and
prevent complications of the disease. If you don't already have a home
treatment plan, ask your doctor to help you make one. Use this plan whenever
symptoms are present. Your plan may include tips for:

Managing a child's special needs

You can help your child cope with special needs in school by:

Making arrangements with teachers or a tutor to help your
child keep pace with classmates when illness causes absences from school.

Explaining to teachers that children with sickle cell disease
may need to use the bathroom more often than other kids. They also need more
water than the other students. Not drinking enough water can raise the chance
of a
sickle cell crisis.

Educating teachers and other school employees about the signs
and symptoms of sickle cell disease that need urgent medical care. Written
instructions will help school personnel know what to do and who to call in an
emergency.

Children with sickle cell disease can usually exercise
and play normally if they:

Drink plenty of fluids before, during, and after exercise. Lack
of fluids (dehydration) can cause cells to sickle.

Get regular rest breaks during vigorous exercise.

Stay warm. Exposure to cold air, wind, and water can trigger a
sickle cell crisis. Dress children in warm layers of
clothing for cold-weather activities. Your child should avoid swimming and playing in cold
water.

Folic acid supplements are often a necessary part of
the diet for people with sickle cell disease, particularly if you aren't eating
enough folate-rich leafy vegetables (such as spinach).

Medications

Medicines that treat
sickle cell disease include hydroxyurea and various pain medicines. Some of these medicines require a prescription. Others are
available
over the counter. Pain medicine may work best when
combined with pain
management skills, such as distraction; guided imagery; deep
breathing; relaxation; and positive, encouraging self-talk.

Pain treatment for sickle cell disease pain varies depending on
how bad the pain is and how long the pain lasts. Medicines that treat the pain include over-the-counter pain relievers (such as ibuprofen) and
prescription
opioids (such as codeine). Opiate pain medicines are used under careful medical supervision.

Hip replacement, if the tissue in the hip breaks down and dies
because it doesn't get enough blood (osteonecrosis).

Other Treatment

Blood transfusions may be used for sickle cell disease. They are the treatment of choice to prevent strokes and treat other aspects of this disease. They can reduce the risk of some complications and improve symptoms of severe anemia.

Related Information

References

Citations

Goldstein LB, et al. (2010). Guidelines for the primary prevention of stroke: A guideline for healthcare professionals from the American Heart Association/American Stroke Association. Stroke. Published online December 2, 2010 (doi: 10.1161/STR.0b013e3181fcb238). Also available online: http://stroke.ahajournals.org/content/42/2/517.full.

Goldstein LB, et al. (2010). Guidelines for the primary prevention of stroke: A guideline for healthcare professionals from the American Heart Association/American Stroke Association. Stroke. Published online December 2, 2010 (doi: 10.1161/STR.0b013e3181fcb238). Also available online: http://stroke.ahajournals.org/content/42/2/517.full.

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